Duck-Bill Lips and Ptosis
Duck-Bill Lips and Ptosis
General: Autosomal dominant.
Ocular: Ptosis; strabismus; hypertelorism.
Clinical: Short philtrum; duck-bill lips; low-set ears; broad forehead; slightly anteverted nose and flat nasal bridge; slightly wide-spaced teeth and high-arched palate; slightly receding chin; slightly wide-set nipples; two phalanges in both fifth fingers; impaired speech.
Char F. Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ear: a new syndrome. Birth Defects 1978; 14:303-305.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
General: Autosomal dominant.
Ocular: Ptosis; strabismus; hypertelorism.
Clinical: Short philtrum; duck-bill lips; low-set ears; broad forehead; slightly anteverted nose and flat nasal bridge; slightly wide-spaced teeth and high-arched palate; slightly receding chin; slightly wide-set nipples; two phalanges in both fifth fingers; impaired speech.
Char F. Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ear: a new syndrome. Birth Defects 1978; 14:303-305.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
0 Comments:
Post a Comment
Links to this post:
Create a Link
<< Home